Endocrine Abstracts

Inactivating mutations in the thyroid hormones (TH) transporter monocarboxylate transporter 8 (MCT8) lead to the X-linked rare disease named MCT8 deficiency or Allan-Herndon-Dudley Syndrome (AHDS). AHDS pathophysiology is characterized by peripheral hyperthyroidism and cerebral hypothyroidism, which results in severe neurological impairments. Although AHDS leads to a spectrum of severe endocrine and neurological alterations, treatment options for MCT8-deficient patients are li...